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690293 tn?1403965768

Short Femur and Humerus bones at 20 weeks

I am 34 years old, pregnant with my 3rd child. I went in for my 20 week ultrasound and was given that paired with the result of my quad screen where the risk for Down syndrome was 1:2200 and the fact that my baby is also measuring with both a small femur and a small humerus bone that my risk is now significantly higher. Has this happened to anyone else? Is there reassurance that you can provide? Every website I go to basically has a ton of numbers and I get confused, so plain english would be nice. Having a child with Down syndrome is not the end of the world and I know this, I am just trying to assess my risks and find appropriate care for my child in a very very rural community without the use of invasive testing.  Thank you for your answers.
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Avatar universal
Going through the same thing, had my 19 week ultrasound done last week and found out we’re expecting a boy. Also they mentioned his limbs are a few weeks behind (2-3 weeks). The same day we seen a specialist who assumed it was lethal skeletal dysplasia due to his small chest cavity and shorter limbs. They have us coming back a week later for follow up measurements and to get a better look at the lungs and heart. We opted in for the amino testing to get more answers. The odds were already against us it felt like so why not? We havent got the results yet but our follow up appointment is in 2 days. We are praying that God will intervene and we’ll have a miracle to tell the doctors and everyone on here. Praying and hoping.
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Avatar universal
Any updates with any's babies ?

my DD's femur and humerus is below 3rd centiles and both is delay by 10 days :(  currently @ 23 weeks and 1 day.  

FL - 3.63 cm -  behind 10 days
HL - 3.32 cm - behind 12 days
AC - 17.55 cm - behind 8 days
HC- 20.64 cm  - behind 2 days

the doc has confirmed she will be a small baby by looking @ the numbers.

1. NIPT came back negative
2. Not exactly tall 160 CM . dad is 168 CM

Worried sick at the moment. cant eat or sleep


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Avatar universal
Can we New on here can everyone post of their outcomes?
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Avatar universal
Dear Mickey

gd

we had the same problem with our baby. Baby girl born with  a fracture which we found during in doppler scan 32 weeks. Doctors said the same thing about osteogenesis. so far the baby seems fine. no other problem but we are doing all necessary in order to understand why this happened. please keep us posted regarding your case.
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Avatar universal

Went back to MFM today. I have been miserable the past few weeks (feeling full, lots of pressure, back pain) and today I found out why. 1) My placenta is low and blocking the cervix (confirms need for c section) and 2) my amniotic fluid is high. I may need an amino reduction. I now have to go back every week. Today I'm supposedly 32w 2d (although I believe they have my due date off by about a week) and her femur is about 6 weeks behind and at less than 2nd percentile. It has grown 3-4 weeks in the past four weeks so her bones are growing just not catching up. A 4d pic showed a beautiful perfect face. Doc confirmed no frontal bossing or flattened nasal bridge. There is also no bowing of the femurs. But he still thinks skeletal dysplasia. I read that femur length measurements can be off 3-4 weeks when your 30 + weeks pregnant so I'm praying this is what's going on in my case. I'm also holding on to all these positive stories.
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Avatar universal
Went to MFM today.  Got second opinion from another doctor in clinic who feels strongly my baby has achondroplasia although he "cannot make a definitive diagnosis at this time."  There are no other markers other than very short femurs (tech measured them to be 6-7 weeks behind although she wasn't supposed to measure today since they just measured two weeks ago).  3d image of her showed a perfect face... Perfect nose and no frontal bossing. We caught a glimpse of her moving hand and fingers looked long and skinny. I'm slowly accepting the diagnosis of skeletal dysplagia but praying for milder form hypochondroplagia.  They can grow as tall as 5'5". Doc doesn't recommend amino as it doesn't test for all gene mutations of SD and can give a false normal.  I will continue to update in case anyone is following this story.  
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Avatar universal
Thanks so much for responding.  I find myself obsessed with these forums searching for some ray of hope that my baby, too, will be just fine.  I read about so many whose baby's femurs are just one to two weeks behind and not so many who are more than five weeks like mine.  I'm single and did in vitro with a donated frozen embryo. I just want to be a mom so bad.  Never expected this as a possible outcome.  I'm so scared about raising a baby with dwarfism on my own.  I am going to talk to the doc Tuesday about an amino just for peace of mind and to prepare for whatever outcome might be.  I will keep you updated as I go thru the rest of my pregnancy. Thanks so much for your support.  And Nathan is adorable!  So happy for you!
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690293 tn?1403965768
I also just updated my profile picture to show y'all Nathan and how my short femur baby grew up.
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690293 tn?1403965768
I am the one who started this thread many years ago.  I still get updates on it and I too wished more people would post on how their babies were doing.

When I delivered Nathan at 40 weeks his femurs were 6 weeks behind and his humerus was 7-8 weeks behind according to ultrasounds.  As you might have read above, he was perfectly healthy.

Nathan is 5 years old now.  Still healthy, and definitely the smartest of my brood of 5 kids, but, he is short.  He is only in the 10th percentile for his age for his height.  He has a 3 1/2 year old brother who is exactly the same height as him.

I know I had a best case scenario out of this.  I spent 20 weeks being cared, looking at every outcome, preparing for the worst and what I got was a perfectly awesome, albeit short little boy. He's probably not going to be in the NBA ever, but I'm ok with this.

Good luck to all of you and please post updates, they are so helpful to those looking for answers

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Avatar universal
I wish more people would post outcomes on how their baby's are doing please.  My baby's femur and humerus lengths have been falling further and further behind since 16 weeks.  I am 29 weeks now and they are now 5-6 wks behind.  No other indicators but specialist says she will have dwarfism. Materni 21 test was neg.  thinking seriously about an amino.  Please people come back and tell us how your babies are doing. Most everyone who has posted has delivered their babies by now.
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Avatar universal
At my 20 week ultrasound, the doctors saw what looked liked a fractured femur.  I've had 2 follow-up ultrasounds since then, and they believe the baby has osteogenesis perfecta.  All the other bones and measurements look good.  I was offered the option to terminate, but I felt based on the limited information that the docs were giving me, I couldn't go through with it.  Anyone else have an experience like this?  And for those who have had their babies, how are the babies doing?
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Avatar universal
Today we went to see our specialist who said our baby boys femurs were still short & looked bowed as well as him having shorter humerus. He basically said we are looking at our son to have dwarfism. He also mentioned possibility of osteogenesis imperfecta. It had been such an overwhelming day. I have looked at so many blogs about different measurements etc....so just wondering if anyone has any information or similar recent stories. I am not accepting this diagnosis & praying that God is going to baffle these doctors & prove them to be wrong & deliver a healthy normal baby boy.  
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Avatar universal
I am 38/40. Anomaly scan at 20/40 revealed short bowed femurs bilaterally. Nil else. All else fine. We declined invasive genetic testing offered by the geneticist to test for type of osteogenesis imperfecta which is presumed to be the diagnosis. Not in either of our families. I wait and hope for a "normal" outcome. I will try to remember to keep you posted as knowing outcome. I wish there was more outcome data available. Second pregnancy (2yo healthy boy) aged 37.  Fingers crossed x
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Avatar universal
Just to add, my wife is on;y 5 feet tall
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Avatar universal
My wife is 38 and pregnant with the first child
We were told the baby's legs are a bit small, and has a calcium spot on the heart.
I myself am 5'10 with short legs and long torso-so not sure if the legs could be just heredity.
Waiting for blood results is very nerve racking
There are no other markers but the short femer and calcium spot on heart
Not sure how to stay calm
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Avatar universal
My wife is 38 and pregnant with the first child
We were told the baby's legs are a bit small, and has a calcium spot on the heart.
I myself am 5'10 with short legs and long torso-so not sure if the legs could be just heredity.
Waiting for blood results is very nerve racking
There are no other markers but the short femer and calcium spot on heart
Not sure how to stay calm
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1294482 tn?1354489288
I am 35 and preg with my 3rd and 4th child (twin girls). My dr sent me to a perinatologist due to being twins and my age and refusing all the blood tests and amnio. All measurements showed totally normal except the femurs... all 4 femur's were short. This was a concern to them and I met with genetic counselor. It took everything in me to not to cry but let it all out as soon as I got to the car. I've not been told of any concerns like this with my other two children though neither of them is tall. My husband is 5'6" and I am 5'4". They told me this is a sign of DS though nothing else is showing and there were a few things they were unable to see in the US so I will go back and re check these things in 3 wks. I would love to hear other stories and outcomes. I just cannot imagine raising 2 little girls with down syndrome and am really freaked out right now.

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Avatar universal
I just joined this blog. I am 19 weeks pregnant with my third child and I am 40 years old. The doctor just informed us that the humorous bone is measuring short with no other markers for downs syndrome. Has anyone else done the MaterniT21 plus blood test thatlooks for T21, t18 and t13? If so I'm wondering if that was positive and the soft marker confirms the DS? We will love this baby boy no matter what I just want to be prepared.  
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Avatar universal
my daughter found out at 35 weeks the babys arms and legs are shorter than what they are suppose to be but everything else looks right they haven't even suggested more test or anything should I be concered
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Avatar universal
I'm 34 years old, 37 weeks pregnant. Since the 20 weeks US, I've was told about my baby's short bones. There were other "issues" that came up the following weeks, saying that my beby had some sort of lethal annomaly  and my son will not make it, they recommended to terminate the pregancy at the 24 weeks mark. I decided not to terminate the pregnancy and let God take my baby if that is what he wanted.  Today all of that "lethal" issues have  dissapeared, I prayed, my family prayed for a Miracle and I got it. His long bones still show short, but nothing lethal or extreme as my obyn said, it is compatible wiht life. I worry a times especially being so close to delivering, but continue praying for my little one, I know all God is with me and my baby, and pray for Faith and Strength. I pray the Rosary to keep me strong.

Thank you for all the postings, especially Exangel, it is reassurring to know your baby is happy and healthy.

I will post how everything turns out.

Katbaby2
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690293 tn?1403965768
I posted an update on how my situation turned out - my son ended up being fine and is now a little over 3 years old.  You posted this about 6 weeks ago.  Have you gone to see a specialist yet?  How are things?
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Avatar universal
I wish the people who posted with similar problems came back to tell us what happened.  I am a daddy of a 3 year old boy and a baby on the way.  momma went in for ultrasound yesterday at 20 weeks.  Doctor said femur was 4 weeks short and bowed along with arm being bowed.  We are scheduled to see a specialist now.  I'm 6'5" and momma is 5'2" so not real confident baby is just short...We lost our first baby at 36 weeks with umbilical cord complications, Our little boy had a 2 vessel cord we worried about, and now this! Anymore advice or info would be very helpful. Thanks to all.
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Avatar universal
My son's femur bone measured below the 3rd percentile.  We had to go the see the maternal fetal medicine specialist weekly.  My son did  not have DS and he just has a really long torso and short little legs.  He looks absolutely normal and is actually on the longer side.  He was born with left side facial paralysis, however, but that is probably unrelated.
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Avatar universal
i need to talk to the last person that posted i dont know how to work this website please email me at ***@**** PLEASE PLEASE AND THANK YOU.
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